Malady Wise

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Autism

Maladywise

Overview

  • Persistent deficits in social communication and reciprocal social interaction

  • Restricted, repetitive and inflexible patterns of behaviour, interests , or activities

Prevalence

  • Between 1 in 40 to 1 in 500 in population

  • 8 year old kids = 1 in 23 boys and 1 in 88 females

  • 4 times more common in males to females

  • Likely underdiagnosed in females

  • Prevalence of ASD in sibling of a child with ASD = 10%

Associations

  • 33 to 45% of patients with ASD have intellectual disability (ID)

  • At least 50% have ADHD

  • 30% have epilepsy

  • The more severe ID, the more severe epilepsy

  • Genetic associations including Tuberous schlerosis complex, Fragile X, Angelman Syndrome, Chromosomal syndromes, Rett, Cohen, Down, NF1, Noonan, Di George, Charge

  • Anxiety

  • ODD

  • Depression

  • Tics

  • Poor sleep

  • Poor feeding

Pathogenesis

  • Genetic factors that alter brain development

  • Specifically neural connectivity

  • Thereby affecting social communication development and leading to restricted interests

  • Epigenetic theory suggests abnormal gene is turned on early in foetal development

  • Probably multiple genes

  • Exposure to epigenetic factors and environmental modifiers contribute

  • High concordance in monozygotic twins

Parental Age

  • Advanced parental age = increased risk ASD

Environmental

  • May account for few cases of ASD but probably constitute a ‘second hit’

  • Some evidence that the broad class of conditions that compromise perinatal and neonatal health may increase risk

    • Abnormal presentation, low birth weight, meconium aspirate

    • Maternal conditions include diabetes, obesity, hypertension, pre-eclampsia

Presentation

Early signs

  • Lack of orientation to name by 12 months

  • Lack of pointing or gesturing to indicate interest by 14 months

  • Lack of pretend play by 18 months

  • Avoiding eye contact or wanting to be alone

  • Repeating words or phrase

  • Upset by minor changes

  • Obsessive traits

  • Flapping hands, rocking body, spinning in circles

  • Sensory reactions to sounds, smell, taste, look, feel

  • Plateau of social skills after early development

  • Lack of interest in socialising, absent or delayed speech, resistance to change, restricted interests

Impaired Social Communication

  • Social intereaction

    • Absent or limited interest in social interaction

    • Lack of social play behaviours, such as copying play of peers

    • Inappropriate response to another’s bid for social interaction

    • Failure to make eye contact when called by name

  • Joint attention

    • Two or more people paying attention to a joint object whilst talking to each other

    • Emerges at 8 to 10 months

    • Kids with ASD have limited or delayed joint attention

Non-verbal communication

  • Inability to use and interpret nonverbal behaviours such as shared eye gaze, facial expression, intonation, gestures, body posture and head and body orientation

  • May avoid eye contact, gaze to intent, or gaze at body or face not eyes

Pragmatic language

  • Skills needed to select the right words for the situation

  • ASD people have impaired pragmatic skills

    • Not using language as a tool for communicaiton

    • Difficulty initiating or sustaining a conversation

    • Difficulty producing for sustaining a conversation

    • Difficulty maintaining a topic of conversation

Developing and sustaining friendships

  • Social cognition

    • Involves imagining or knowing about the bliefs, desires, intentions and emotions of others and the ability to guess at the actions that others are like to take

    • ASD people misunderstand the emotional responses of others e.g believing someone is scared when they are happy, or not understanding someone is in pain

    • Not noticing that a social partner is not interested in their preferred topic of conversation

    • Inability to understand the difference between acquaintances, friends and intimate relationships

  • Social interaction and relationships

    • Little or no interest in developing relationships

    • Solitary play

    • Or play that involves a mechanical aid e.g. using the hand of a caregiver to obtain a desired object

Repetitive Behaviour, Interests, Activities

  • Hand or finger flapping, twisting, rocking, swaying, dipping, walking on tiptoe, are core symptoms of ASD

  • Kids may line up an exact number of playthings in the same manner in a sterotyped ritual

  • Delayed echolalia

Insistence of sameness / resistance to change

  • Always eat foods in a specific order

  • Always follow the same route from one place to another

  • Always talking about the same things

  • Scripted play e.g. mimicking what has been seen on TV

  • Not tolerating deviation from normal or expected

Restricted Interests

  • Interest in mechanical topics like trains or cars is normal, ASD kids have difficulty shifting their attention away from their preferred topic

  • Preoccupation with unusual objects e.g. ceiling fans, vacuum cleaners

Atypical response to sensory stimuli

  • Visual inspection of objects out of the corner of the eyes

  • Preoccupation with edges, spinning objects, shiny surfaces, lights, odors

  • Refusal to eat foods with certain tastes or textures

  • Preoccupation with sniffing or licking non food objects

  • Tactile defensiveness

  • Apparent indfiference to pain

  • Hyperesensitivity to particular sounds

Other Clinical Features

  • Abnormal gait, clumsiness, toe-walking, hypotonia

  • Macrocephaly

    • 25% have HC > 97th centile

  • Special skills = savant

    • Memory, maths, music, art, puzzles

Complementary and alternative therapies

Healthy Lifestyle

  • Healthy diet

  • Regular exercise

  • Adequate sleep

  • Management of stress

  • Social support

  • Avoidance of neurotoxins

  • Vitamin D supplementation to meet daily requirements might be needed

Treatments with NO evidence of benefit

  • Secretin (GIT hormone)

  • Facilitate communication

Treatments with possible benefit, potential risk

  • Gluten free casein free diet

    • Not recommended unless evidence of coeliac disease or true gluten sensitivity

    • Evidence of efficacy is limited and weak

    • Strict adherence to the diet is difficulty and may be associated with nutritional deficiencies

Treatments with unknown benefit, possible risk

  • IVIG

  • Chelation

  • Hyperbaric oxygen

  • Antimicrobials including antifungals

  • Vitamiin B6 and Magnesium

  • Vitamin A

  • Vitamin D without deficiency

  • Homeopathic rememdies

  • Vagus nerve stimulation

  • Stem cell transplant

Treatment with possible benefit, low risk

  • Music therapy

  • Melatonin

  • Oxytocin

  • Therapeutic horseback riding

  • Animal / pet therapy

  • Transcranial magnetic stimulation

Other interventions - Lack evidence but are likely safe

  • Yoga

  • Body work and energy therapies

  • Hypnotherapy

  • Vitamin D up to 2g

  • Vitamin B12

  • Omega-3 Fatty acids

  • Probiotics

  • Cannabinoids

  • Zinc

  • Herbs

  • Amino acids

  • Acupuncture

  • Chiropractic

Management